SNP Links for Protein (Select 116642889) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:86743560 (GRCh38)
8:87755788 (GRCh37)
Canonical SPDI:: NC_000008.11:86743559:C:A
Gene:: CNGB3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.86743560C>A, NC_000008.10:g.87755788C>A, NG_016980.1:g.5116G>T, NM_019098.5:c.68G>T, NM_019098.4:c.68G>T, NP_061971.3:p.Ser23Ile

Select item 147249923715.

rs1472499237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:86743536 (GRCh38)
8:87755764 (GRCh37)
Canonical SPDI:: NC_000008.11:86743535:G:A,NC_000008.11:86743535:G:C,NC_000008.11:86743535:G:T
Gene:: CNGB3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000008.11:g.86743536G>A, NC_000008.11:g.86743536G>C, NC_000008.11:g.86743536G>T, NC_000008.10:g.87755764G>A, NC_000008.10:g.87755764G>C, NC_000008.10:g.87755764G>T, NG_016980.1:g.5140C>T, NG_016980.1:g.5140C>G, NG_016980.1:g.5140C>A, NM_019098.5:c.92C>T, NM_019098.5:c.92C>G, NM_019098.5:c.92C>A, NM_019098.4:c.92C>T, NM_019098.4:c.92C>G, NM_019098.4:c.92C>A, NP_061971.3:p.Ser31Phe, NP_061971.3:p.Ser31Cys, NP_061971.3:p.Ser31Tyr

Select item 147072273116.

rs1470722731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:86626015 (GRCh38)
8:87638243 (GRCh37)
Canonical SPDI:: NC_000008.11:86626014:A:G
Gene:: CNGB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.86626015A>G, NC_000008.10:g.87638243A>G, NG_016980.1:g.122661T>C, NM_019098.5:c.1546T>C, NM_019098.4:c.1546T>C, XM_011517138.3:c.1132T>C, XM_011517138.2:c.1132T>C, XM_011517138.1:c.1132T>C, NP_061971.3:p.Phe516Leu, XP_011515440.1:p.Phe378Leu

Select item 146970105917.

rs1469701059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:86578774 (GRCh38)
8:87591002 (GRCh37)
Canonical SPDI:: NC_000008.11:86578773:G:A
Gene:: CNGB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.86578774G>A, NC_000008.10:g.87591002G>A, NG_016980.1:g.169902C>T, NM_019098.5:c.2018C>T, NM_019098.4:c.2018C>T, XM_011517138.3:c.1604C>T, XM_011517138.2:c.1604C>T, XM_011517138.1:c.1604C>T, NP_061971.3:p.Pro673Leu, XP_011515440.1:p.Pro535Leu

Select item 146965708418.

rs1469657084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:86611654 (GRCh38)
8:87623882 (GRCh37)
Canonical SPDI:: NC_000008.11:86611653:C:A
Gene:: CNGB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.86611654C>A, NC_000008.10:g.87623882C>A, NG_016980.1:g.137022G>T, NM_019098.5:c.1596G>T, NM_019098.4:c.1596G>T, XM_011517138.3:c.1182G>T, XM_011517138.2:c.1182G>T, XM_011517138.1:c.1182G>T, NP_061971.3:p.Met532Ile, XP_011515440.1:p.Met394Ile

Select item 146937586019.

rs1469375860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:86628935 (GRCh38)
8:87641163 (GRCh37)
Canonical SPDI:: NC_000008.11:86628934:G:A
Gene:: CNGB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.86628935G>A, NC_000008.10:g.87641163G>A, NG_016980.1:g.119741C>T, NM_019098.5:c.1464C>T, NM_019098.4:c.1464C>T, XM_011517138.3:c.1050C>T, XM_011517138.2:c.1050C>T, XM_011517138.1:c.1050C>T

Select item 146798698820.

rs1467986988 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 8:86576112 (GRCh38)
8:87588341 (GRCh37)
Canonical SPDI:: NC_000008.11:86576112:TT:TTTT
Gene:: CNGB3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: TT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.86576113_86576114dup, NC_000008.10:g.87588341_87588342dup, NG_016980.1:g.172562_172563dup, NM_019098.5:c.2120_2121dup, NM_019098.4:c.2120_2121dup, XM_011517138.3:c.1706_1707dup, XM_011517138.2:c.1706_1707dup, XM_011517138.1:c.1706_1707dup, NP_061971.3:p.Gly708fs, XP_011515440.1:p.Gly570fs

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